Canonical Allele Identifier: CA2505222089
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152494_80152495insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC , CM000677.2:g.80152494_80152495insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC GRCh38
NC_000015.9:g.80444836_80444837insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC , CM000677.1:g.80444836_80444837insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC GRCh37
NC_000015.8:g.78231891_78231892insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC NCBI36
NG_012833.1:g.4496_4497insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-81_-80insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC ENSP00000453152.1:n.-81_-80insCCGAGTTCAGTCCTGCTCTCCGCACGCCACC...
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